Pietro Farinelli
Lausanne, VD, Switzerland
Last Updated: 09/26/2026
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Found 16 publications
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.
Journal: JCI insight
Published: June 12, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Journal: Frontiers in cell and developmental biology
Published: November 30, 2022
Angiomotin isoform 2 promotes binding of PALS1 to KIF13B at primary cilia and regulates ciliary length and signaling.
Journal: Journal of cell science
Published: October 26, 2021
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Journal: Human mutation
Published: August 01, 2019
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
Journal: Ophthalmic genetics
Published: April 24, 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Journal: Nature communications
Published: September 21, 2018
IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases.
Journal: The Journal of cell biology
Published: November 08, 2016
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Journal: Human molecular genetics
Published: July 08, 2016
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Journal: American journal of human genetics
Published: March 17, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Journal: American journal of human genetics
Published: March 13, 2016
Last Updated: 09/26/2026